Incidental Mutation 'R6390:Ift57'
ID 515738
Institutional Source Beutler Lab
Gene Symbol Ift57
Ensembl Gene ENSMUSG00000032965
Gene Name intraflagellar transport 57
Synonyms 4833420A15Rik, Esrrbl1, HIPPI, MHS4R2
MMRRC Submission 044539-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6390 (G1)
Quality Score 119.008
Status Validated
Chromosome 16
Chromosomal Location 49519657-49585489 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to G at 49582836 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117882 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046777] [ENSMUST00000142682]
AlphaFold Q8BXG3
Predicted Effect probably null
Transcript: ENSMUST00000046777
SMART Domains Protein: ENSMUSP00000046645
Gene: ENSMUSG00000032965

DomainStartEndE-ValueType
low complexity region 16 37 N/A INTRINSIC
Pfam:IFT57 44 401 2.1e-154 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127115
Predicted Effect probably null
Transcript: ENSMUST00000140914
SMART Domains Protein: ENSMUSP00000116412
Gene: ENSMUSG00000032965

DomainStartEndE-ValueType
transmembrane domain 13 35 N/A INTRINSIC
Pfam:IFT57 48 273 6.4e-84 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000142682
SMART Domains Protein: ENSMUSP00000117882
Gene: ENSMUSG00000032965

DomainStartEndE-ValueType
Pfam:IFT57 1 272 5.5e-111 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.4%
Validation Efficiency 100% (29/29)
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality during organogenesis, abnormal left-right axis patterning, absence of embryonic cilia. random and delayed embryo turning, and abnormal neural tube development and morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atg9a G T 1: 75,164,625 (GRCm39) P113Q probably damaging Het
Ccdc150 A G 1: 54,407,176 (GRCm39) D1073G probably benign Het
Cd8a A G 6: 71,350,913 (GRCm39) Y126C probably damaging Het
Cdca8 A G 4: 124,830,168 (GRCm39) M68T probably damaging Het
Cyp2d26 G A 15: 82,676,825 (GRCm39) P174S possibly damaging Het
Dnai3 A G 3: 145,801,143 (GRCm39) L105P probably damaging Het
Esco1 T G 18: 10,567,528 (GRCm39) N311H probably damaging Het
Evx1 A G 6: 52,292,842 (GRCm39) M183V probably benign Het
Fam111a T G 19: 12,565,524 (GRCm39) Y424* probably null Het
Fat4 T C 3: 39,034,529 (GRCm39) I2727T probably damaging Het
Ggt6 T A 11: 72,327,437 (GRCm39) Y107N possibly damaging Het
Habp2 G C 19: 56,295,255 (GRCm39) E49Q possibly damaging Het
Hibadh A C 6: 52,533,474 (GRCm39) L214R probably damaging Het
Irak4 T C 15: 94,459,367 (GRCm39) S328P probably damaging Het
Krtap6-2 A T 16: 89,216,834 (GRCm39) Y44* probably null Het
Lrrc46 T C 11: 96,931,757 (GRCm39) T22A probably damaging Het
Muc2 G T 7: 141,305,883 (GRCm39) V230L probably damaging Het
Ncan T C 8: 70,567,899 (GRCm39) D71G probably benign Het
Nsd2 T C 5: 34,038,525 (GRCm39) S779P probably damaging Het
Rps6ka5 G T 12: 100,537,251 (GRCm39) T493K probably damaging Het
Slc6a21 A T 7: 44,936,426 (GRCm39) M135L probably benign Het
Sprtn A G 8: 125,629,958 (GRCm39) N417S probably benign Het
Trim61 T A 8: 65,466,842 (GRCm39) M140L probably benign Het
Vars1 C A 17: 35,234,615 (GRCm39) A1148E probably benign Het
Vmn2r106 C T 17: 20,488,725 (GRCm39) C558Y probably damaging Het
Vmn2r112 T C 17: 22,824,230 (GRCm39) V495A probably benign Het
Vmn2r117 A T 17: 23,679,088 (GRCm39) V712E possibly damaging Het
Wdfy4 T C 14: 32,826,051 (GRCm39) D1200G probably damaging Het
Zbtb6 A T 2: 37,318,690 (GRCm39) S413T probably benign Het
Zp2 G T 7: 119,740,453 (GRCm39) N170K probably benign Het
Other mutations in Ift57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02476:Ift57 APN 16 49,584,252 (GRCm39) missense probably benign 0.39
R0636:Ift57 UTSW 16 49,532,259 (GRCm39) missense probably benign 0.27
R1552:Ift57 UTSW 16 49,579,716 (GRCm39) missense probably benign 0.09
R2172:Ift57 UTSW 16 49,579,703 (GRCm39) missense probably benign 0.03
R2885:Ift57 UTSW 16 49,584,114 (GRCm39) missense probably damaging 0.98
R4657:Ift57 UTSW 16 49,582,957 (GRCm39) splice site probably null
R4761:Ift57 UTSW 16 49,522,263 (GRCm39) missense probably damaging 1.00
R5726:Ift57 UTSW 16 49,519,861 (GRCm39) missense probably damaging 1.00
R5958:Ift57 UTSW 16 49,531,471 (GRCm39) intron probably benign
R6013:Ift57 UTSW 16 49,519,667 (GRCm39) splice site probably null
R6189:Ift57 UTSW 16 49,584,176 (GRCm39) missense probably damaging 1.00
R6749:Ift57 UTSW 16 49,581,347 (GRCm39) missense probably benign 0.23
R6862:Ift57 UTSW 16 49,584,167 (GRCm39) missense possibly damaging 0.49
R7073:Ift57 UTSW 16 49,584,230 (GRCm39) missense probably benign 0.10
R7379:Ift57 UTSW 16 49,581,357 (GRCm39) missense probably damaging 1.00
R7556:Ift57 UTSW 16 49,526,491 (GRCm39) missense probably benign 0.00
R8479:Ift57 UTSW 16 49,522,263 (GRCm39) missense probably damaging 1.00
R9011:Ift57 UTSW 16 49,579,777 (GRCm39) missense probably benign 0.34
R9313:Ift57 UTSW 16 49,557,085 (GRCm39) missense possibly damaging 0.88
R9392:Ift57 UTSW 16 49,584,174 (GRCm39) missense possibly damaging 0.86
Predicted Primers PCR Primer
(F):5'- GGTAGCATTGTGTTGGCTAATAAC -3'
(R):5'- TGAAGGCATACTCACTGCCG -3'

Sequencing Primer
(F):5'- GGTAAATGCTAGTGATAATTGCACAG -3'
(R):5'- ACTGCCGTCCGTCATGCTG -3'
Posted On 2018-05-04